• <em>NAA10</em> polyadenylation signal variants cause syndromic microphthalmia
• 3D facial morphometry in Italian patients affected by Aicardi syndrome
• A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
• A central role for regulated protein stability in the control of TFE3 and MITF by nutrients
• A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
• A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
• A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family
• A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
• A Review of Human Ocular RNA Virus Infections Excluding Coronavirus, Human T-Cell Lymphotropic Virus, and Arboviruses
• A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
• A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
• A Very Rare Partial Trisomy Syndrome: <em>De Novo</em> Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
• AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
• Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia
• Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst
• BCOR variants are associated with X-linked recessive partial epilepsy
• Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
• Bi-allelic variants in <em>WNT7B</em> disrupt the development of multiple organs in humans
• Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
• Broad Spectrum epidemiological contribution of cannabis and other substances to the teratological profile of northern New South Wales: geospatial and causal inference analysis
• Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
• Case report: Expansion of phenotypic and genotypic data in <em>TENM3</em>-related syndrome: Report of two cases
• Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
• Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome
• Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
• Congenital high airway obstruction syndrome (CHAOS): a case report
• Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders
• Cryptophthalmos: associated syndromes and genetic disorders
• Dandy-Walker Variant Associated with Bilateral Congenital Cataract
• Demographics and histopathological characteristics of enucleated microphthalmic globes
• Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series
• Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
• Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?
• Ethanol Causes Cell Death and Neuronal Differentiation Defect During Initial Neurogenesis of the Neural Retina by Disrupting Calcium Signaling in Human Retinal Organoids
• Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
• Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
• Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review
• First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
• Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
• Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
• Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
• Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
• Hallermann-Streiff Syndrome and Psychosis: A Case Report
• Hallermann-Streiff syndrome diagnosed in the seventh decade of life
• Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease
• Identification of a novel microdeletion causative of Nance-Horan syndrome
• Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
• In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
• Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
• Individuals with heterozygous variants in the Wnt-signalling pathway gene <em>FZD5</em> delineate a phenotype characterized by isolated coloboma and variable expressivity
• Induction of Immune Surveillance of the Dysmorphogenic Lens
• Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic
• Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
• Lens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature
• Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
• Lenz micropthalmia syndrome with associated orbital cysts
• Maternal cytomegalovirus infection and delayed language development in children at 3 years of age-a nested case-control study in a large population-based pregnancy cohort
• Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant
• Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature
• Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu
• MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61
• Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
• Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study
• Multiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism
• Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome
• Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
• Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
• Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
• New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
• Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner
• Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
• Ocular Phenotype of Peters-Plus Syndrome
• Oculo-facio-cardio-dental syndrome caused by <em>BCOR</em> gene mutations: a case report
• Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report
• Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report
• Orthopaedic manifestations in a case of Lenz microphthalmia syndrome
• Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity
• Patterns of co-occurring birth defects in children with anotia and microtia
• Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms
• Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
• Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the <em>FOXP1</em> Gene: Review of the Literature
• PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy
• Posterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report
• Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
• Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome
• Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis
• Progressive Cone-Rod Dystrophy and RPE Dysfunction in <em>Mitf^mi/+</em> Mice
• Ptosis Correction
• Rapid resolution of severe exudation in uveal effusion syndrome with anti-vascular endothelial growth factor alone in a case of bilateral nanophthalmos: a case report
• Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology
• Relating SMCHD1 structure to its function in epigenetic silencing
• Renal involvement and Strømme syndrome
• Retinal Manifestations of Walker-Warburg Syndrome in Two Siblings with RXYLT1 Mutations
• Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases
• SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization
• Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service
• The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study
• The phenotypic spectrum associated with OTX2 mutations in humans
• Three Novel Mutations of Microphthalmos Identified in Two Chinese Families
• Total retinal detachment and contractile movement of the disc in eyes with morning glory syndrome